{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cappella M"],"funding":["Ministero della Salute","Telethon","AFM-Téléthon","Ministero della Salute (Ministry of Health, Italy)","AFM-Téléthon (French Muscular Dystrophy Association)"],"pagination":["729"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6023919"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(7)"],"pubmed_abstract":["Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity. MicroRNAs (miRNAs) are short non-coding RNAs that, after maturation, are loaded onto the RISC effector complex that destabilizes target mRNAs and represses their translation. In DM1 muscle biopsies not only the expression, but also the intracellular localization of specific miRNAs is disrupted, leading to the dysregulation of the relevant mRNA targets. To investigate the functional alterations of the miRNA/target interactions in DM1, we analyzed by RNA-sequencing the RISC-associated RNAs in skeletal muscle biopsies derived from DM1 patients and matched controls. The mRNAs found deregulated in DM1 biopsies were"],"journal":["Cell death & disease"],"pubmed_title":["High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2."],"pmcid":["PMC6023919"],"funding_grant_id":["18477","RF-2011-02347907","GGP14092","PE-2011-02348537"],"pubmed_authors":["Cardinali B","Garcia-Manteiga JM","Provenzano C","Falcone G","Cappella M","Perfetti A","Carrara M","Renna LV","Meola G","Martelli F","Fuschi P","Cardani R"],"additional_accession":[]},"is_claimable":false,"name":"High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2.","description":"Myotonic dystrophy type 1 (DM1) is a multi-systemic disorder caused by abnormally expanded stretches of CTG DNA triplets in the DMPK gene, leading to mutated-transcript RNA-toxicity. MicroRNAs (miRNAs) are short non-coding RNAs that, after maturation, are loaded onto the RISC effector complex that destabilizes target mRNAs and represses their translation. In DM1 muscle biopsies not only the expression, but also the intracellular localization of specific miRNAs is disrupted, leading to the dysregulation of the relevant mRNA targets. To investigate the functional alterations of the miRNA/target interactions in DM1, we analyzed by RNA-sequencing the RISC-associated RNAs in skeletal muscle biopsies derived from DM1 patients and matched controls. The mRNAs found deregulated in DM1 biopsies were","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jun","modification":"2026-05-02T13:12:21.265Z","creation":"2019-03-26T23:44:29Z"},"accession":"S-EPMC6023919","cross_references":{"pubmed":["29955039"],"doi":["10.1038/s41419-018-0769-5"]}}